(Q34980882)

5 August 2017

title

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy (English)

1 reference

5 August 2017

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3

Ora Schueler-Furman

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Simon Edvardson

object named as

Simon Edvardson

7

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Ann Saada

object named as

Ann Saada

8

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author name string

Ulla Najwa Abdulhag

1

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5 August 2017

Devorah Soiferman

2

1 reference

5 August 2017

Chaya Miller

4

1 reference

5 August 2017

Avraham Shaag

5

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5 August 2017

Orly Elpeleg

6

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5 August 2017

publication date

30 April 2014

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European Journal of Human Genetics

5 August 2017

published in

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5 August 2017

volume

23

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5 August 2017

issue

2

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5 August 2017

page(s)

159-164

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describes a project that uses

5 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4297913/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

The effect of small molecules on nuclear-encoded translation diseases

1 reference

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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

8 July 2018

1 reference

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Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review

8 July 2018

1 reference

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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

8 July 2018

1 reference

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EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

8 July 2018

1 reference

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297913

The many clinical faces of cytochrome c oxidase deficiency

8 July 2018

1 reference

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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

8 July 2018

1 reference

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Screening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compound

8 July 2018

1 reference

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Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core

8 July 2018

1 reference

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Role of conformational sampling in computing mutation-induced changes in protein structure and stability

8 July 2018

1 reference

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Acute infantile liver failure due to mutations in the TRMU gene.

8 July 2018

1 reference

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

8 July 2018

1 reference

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Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene

8 July 2018

1 reference

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Multisystem manifestations of mitochondrial disorders

8 July 2018

1 reference

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Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

8 July 2018

1 reference

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A histidine residue acting as a controlling site for dioxygen reduction and proton pumping by cytochrome c oxidase

8 July 2018

1 reference

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Biochemical assays for mitochondrial activity: assays of TCA cycle enzymes and PDHc

8 July 2018

1 reference

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Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297913

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

8 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297913

8 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2014.85

Ascorbate reduces superoxide production and improves mitochondrial respiratory chain function in human fibroblasts with electron transport chain deficiencies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.85

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.85

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference